Canonical Allele Identifier: CA2574567849
Community Standard Title: NM_000188.3(HK1):c.376-100T>A
Gene: HK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69364683T>A , CM000672.2:g.69364683T>A GRCh38
NC_000010.10:g.71124439T>A , CM000672.1:g.71124439T>A GRCh37
NC_000010.9:g.70794445T>A NCBI36
NG_012077.1:g.99684T>A , LRG_365:g.99684T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000188.3:c.376-100T>A MANE Select NP_000179.2:n.376-100T>A
ENST00000359426.7:c.376-100T>A MANE Select ENSP00000352398.6:n.376-100T>A
NM_001358263.1:c.388-100T>A MANE Plus Clinical NP_001345192.1:n.388-100T>A
ENST00000643399.2:c.388-100T>A MANE Plus Clinical ENSP00000494664.1:n.388-100T>A
NM_000188.2:c.376-100T>A NP_000179.2:n.376-100T>A
NM_001322364.1:c.388-100T>A NP_001309293.1:n.388-100T>A
NM_001322364.2:c.388-100T>A NP_001309293.1:n.388-100T>A
NM_001322365.1:c.481-100T>A NP_001309294.1:n.481-100T>A
NM_001322365.2:c.481-100T>A NP_001309294.1:n.481-100T>A
NM_001322366.1:c.292-100T>A NP_001309295.1:n.292-100T>A
NM_001322367.1:c.376-100T>A NP_001309296.1:n.376-100T>A
NM_033496.2:c.373-100T>A NP_277031.1:n.373-100T>A
NM_033496.3:c.373-100T>A NP_277031.1:n.373-100T>A
NM_033497.2:c.388-100T>A NP_277032.1:n.388-100T>A
NM_033497.3:c.388-100T>A NP_277032.1:n.388-100T>A
NM_033498.2:c.388-100T>A NP_277033.1:n.388-100T>A
NM_033498.3:c.388-100T>A NP_277033.1:n.388-100T>A
NM_033500.2:c.340-100T>A , LRG_365t1:c.340-100T>A NP_277035.2:n.340-100T>A
ENST00000298649.7:c.373-100T>A ENSP00000298649.3:n.373-100T>A
ENST00000298649.8:c.373-100T>A ENSP00000298649.3:n.373-100T>A
ENST00000359426.6:c.376-100T>A ENSP00000352398.6:n.376-100T>A
ENST00000360289.6:c.340-100T>A ENSP00000353433.2:n.340-100T>A
ENST00000421088.5:c.340-100T>A ENSP00000398316.1:n.340-100T>A
ENST00000436817.5:c.373-100T>A ENSP00000415949.1:n.373-100T>A
ENST00000436817.6:c.388-100T>A ENSP00000415949.2:n.388-100T>A
ENST00000448642.6:c.388-100T>A ENSP00000402103.3:n.388-100T>A
ENST00000450646.5:c.388-100T>A ENSP00000409761.1:n.388-100T>A
ENST00000470050.2:c.376-100T>A ENSP00000515580.1:n.376-100T>A
ENST00000493591.5:n.380-100T>A
ENST00000493591.6:c.*264-100T>A ENSP00000494917.1:n.*264-100T>A
ENST00000494253.1:n.602-100T>A
ENST00000703944.1:c.388-100T>A ENSP00000515576.1:n.388-100T>A
ENST00000703945.1:c.292-100T>A ENSP00000515578.1:n.292-100T>A
ENST00000703946.1:c.376-100T>A ENSP00000515579.1:n.376-100T>A
ENST00000703947.1:c.376-100T>A ENSP00000515581.1:n.376-100T>A
ENST00000703948.1:c.227-100T>A ENSP00000515582.1:n.227-100T>A
ENST00000703949.1:c.376-100T>A ENSP00000515583.1:n.376-100T>A
ENST00000703950.1:c.376-100T>A ENSP00000515584.1:n.376-100T>A
ENST00000703951.1:c.376-100T>A ENSP00000515585.1:n.376-100T>A
ENST00000703952.1:c.376-100T>A ENSP00000515586.1:n.376-100T>A
ENST00000703953.1:c.376-100T>A ENSP00000515587.1:n.376-100T>A
ENST00000703954.1:c.376-3853T>A ENSP00000515588.1:n.376-3853T>A
ENST00000703955.1:n.926-100T>A
ENST00000703956.1:n.188-100T>A
XM_005269735.2:c.505-100T>A XP_005269792.1:n.505-100T>A
XM_005269736.1:c.388-100T>A XP_005269793.1:n.388-100T>A
XM_005269737.1:c.292-100T>A XP_005269794.1:n.292-100T>A
XM_011539732.1:c.340-100T>A XP_011538034.1:n.340-100T>A
XM_011539733.1:c.334-100T>A XP_011538035.1:n.334-100T>A
XM_011539734.1:c.331-100T>A XP_011538036.1:n.331-100T>A
XM_024447969.1:c.388-100T>A XP_024303737.1:n.388-100T>A